Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Broad Center for Mendelian Genomics, |
RCV000586900 | SCV000693916 | uncertain significance | Muscular dystrophy | 2017-06-26 | criteria provided, single submitter | research | Muscular dystrophy patient with a rare variant in TP63 (chr3:189455662 G>C) near the splice donor site after exon 2. This variant results in the skipping of exon 2 as observed in RNA sequencing and cDNA confirmation studies from the patient’s muscle. The transcripts affected by the skipping of exon 2 occur in the full length TAp63 isoforms of the protein and are expressed at high levels in muscle. The muscular dystrophy patient has a limb-girdle like phenotype, ptosis, and keloid scarring. A muscle biopsy reveals dystrophic pathology and fibrotic accumulation in the left deltoid, while the quadriceps is spared from disease. |